R107P (p.Arg107Pro) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R107P (p.Arg107Pro) in NKX2-5 (Homeobox protein Nkx-2.5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R107P (p.Arg107Pro) variant details
- p.Arg107Pro
- gnomAD 5-173233449-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0996
- CADD 2.68
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available